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Gene

AFG2A

AAA ATPase AFG2A

Summary

Cytogenetic location
4q28.1
Coordinates
Chromosome 4: 122,923,078–123,319,433 (GRCh38)
Exons
16 exons across 396.4 kb
Protein
893 amino acids
Also known as
SPAF, AFG2
Previous symbols
SPATA5
MANE Select transcript
ENST00000274008.5NM_145207.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads AFG2A yet. The test sequences your whole genome, so your data includes it all the same.

How AFG2A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where AFG2A sits. AFG2A and 5 genes near it on chromosome 4, from 122,526,722 to 123,715,789.Chromosome 44q28.1p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2122.6 Mb122.8 Mb123 Mb123.2 Mb123.4 Mb123.6 MbIL21: 122,610,108–122,621,066, reverse strandIL21BBS12: 122,732,653–122,746,078, forward strandBBS12FGF2: 122,826,680–122,898,236, forward strandFGF2NUDT6: 122,886,565–122,922,968, reverse strandNUDT6AFG2A: 122,923,078–123,319,433, forward strandAFG2ASPRY1: 123,396,754–123,407,429, forward strandSPRY1Diagram of AFG2A: 16 exons on the forward strand of chromosome 4Exon 1: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 21 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 14 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 3 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 1 known disease-causing siteExon 1: 122,923,078–122,923,305, 228 basesExon 2: 122,927,634–122,927,758, 125 basesExon 3: 122,929,040–122,929,197, 158 basesExon 4: 122,933,439–122,933,497, 59 basesExon 5: 122,934,097–122,934,738, 642 basesExon 6: 122,935,714–122,935,843, 130 basesExon 7: 122,936,100–122,936,156, 57 basesExon 8: 122,938,126–122,938,249, 124 basesExon 9: 122,947,233–122,947,488, 256 basesExon 10: 122,979,232–122,979,386, 155 basesExon 11: 123,028,186–123,028,395, 210 basesExon 12: 123,056,387–123,056,440, 54 basesExon 13: 123,057,209–123,057,288, 80 basesExon 14: 123,090,579–123,090,705, 127 basesExon 15: 123,256,016–123,256,180, 165 basesExon 16: 123,313,888–123,319,433, 5,546 bases151015165′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8.1 kb of the gene's 396.4 kb; 2,682 of those bases code for the protein.

How a genome test reads AFG2A

86

positions in AFG2A where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 396.4 kb of AFG2A, introns included, not only the 8.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AFG2A gene: AAA ATPase AFG2A. Retrieved 16 October 2026, from https://dantelabs.com/genes/afg2a

Vancouver

Dante Labs. AFG2A gene: AAA ATPase AFG2A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/afg2a

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